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Figure 4 | BMC Genetics

Figure 4

From: Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

Figure 4

Caracterisation of the 310delG mutation in the family OA1-3. (A) Direct sequencing of the OA1 gene exon 2 showing a one-bp deletion in the index case (bottom) compared with the wild-type sequence (top). (B) Familial segregation of the 310delG mutation is illustrated by restriction analysis. The mutation creates a new restriction site for TaqI, which cleaves the 204-bp exon 2 PCR product into two fragments (104 and 100 bp) in III3 and IV1, showing a heterozygous pattern in the carrier females II1 and III2. M: molecular weight marker, one kilobase ladder, Gibco BRL.

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BMC Genomic Data

ISSN: 2730-6844

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